- Email: [email protected]
Surgical timing of craniosynostosis: What to do and when
Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
Contents lists available at ScienceDirect
Journal of Cranio-Maxillo-Facial Surgery journal homepage: www.jcmfs.com
Surgical timing of craniosynostosis: What to do and when Mario Pagnoni a, Maria Teresa Fadda a, Alberto Spalice b, Giulia Amodeo a, *, Fabiana Ursitti b, Valeria Mitro a, Giorgio Iannetti a a b
Department of Maxillo-Facial Surgery, Policlinico Umberto I, Sapienza University of Rome, Piazzale Aldo Moro 9, 00185 Rome, Italy Department of Pediatrics, Child Neurology Division, Policlinico Umberto I, Sapienza University of Rome, Piazzale Aldo Moro 9, 00185 Rome, Italy
a r t i c l e i n f o
a b s t r a c t
Article history: Paper received 20 January 2013 Accepted 31 July 2013
Craniosynostosis, both isolated and syndromic, are challenging malformations for the craniofacial team. They present the team with an articulated cascade of choices, which need to be addressed early in life and in the growing age to intercept, remove, or correct the direct and indirect consequences of the malformation. Timing of treatment is thus critical and it stands on the experience of a multi-specialty trained craniofacial team. In this paper the authors discuss the timing of treatment of the major craniosynostosis, isolated and syndromic, reviewing the options for treatment and their experience in this complex field. Ó 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
Keywords: Isolated craniosynostosis Syndromic craniosynostosis Surgical timing
1. Introduction The timing of surgery for craniosynostosis is still controversial. The aim of this study is to find a common and practical protocol to treat this kind of patients over their lives. Craniosynostosis, the premature fusion of one or more cranial sutures, was first described by Otto in 1830 (Otto, 1830). Studies by Virchow in the 1850s led to the proposal of calvarial growth in a plane parallel to that of the fused suture, with sagittal synostosis resulting in a scaphocephalic, or boat-shaped, skull secondary to compensatory growth in the anteroposterior axis (Virchow, 1851). Virchow, however, also attributed craniosynostosis to either cretinism or an inflammation from the meninges (Virchow, 1851). Subsequent work by Park and Powers (1920) led to a conceptual revision in the 1920s, as congenital abnormalities in the suture mesenchyme became thought of as responsible for early suture fusion. In the 1950s, aetiological explanations for craniosynostosis once again changed, with studies by Moss (1959) purporting aberrations in the basicranium altering transmission of force, via the dura mater, to the overlying cranial sutures ultimately affecting premature fusion. While recent genetic and mechanical studies have now supplanted this notion, investigations by Moss, nonetheless, engendered a radical shift in the surgical approach to craniosynostosis. Given the
* Corresponding author. Viale del Policlinico 155, 00186 Rome, Italy. Tel.: þ39 3391020622. E-mail address: [email protected] (G. Amodeo).
observation that suturectomy alone did not restore normal calvarial development, complex craniofacial procedures were also deemed necessary to allow for proper growth and cranial expansion (Moss, 1959). Such realizations resulted in the pioneering work of Paul Tessier (1967). Epidemiologically these kinds of pathologies may be divided into isolated, further divided into single or multiple synostosis, and syndromic. 2. Isolated craniosynostosis Premature fusion of one or more cranial suture results in restriction of the growing brain, with subsequent morphologic bony deformities due to specific patterns of compensatory growth. The most common type of craniosynostosis, whether isolated or part of a larger syndromic pattern, is sagittal synostosis, resulting in a scaphocephalic deformity (Posnick, 2000) (Figs. 1 and 2). Other forms include metopic synostosis, resulting in a trigonocephaly deformity, unilateral coronal synostosis, resulting in a plagiocephaly deformity (Figs. 3 and 4), and bilateral coronal synostosis, resulting in a turribrachycephalic deformity. While lambdoid synostosis may also result in a plagiocephalic skull, this clinical entity has been infrequently encountered (Posnick, 2000). In addition to this calvarial dysmorphologies, premature pathologic suture fusion, as demonstrated by Moss, may be associated with multiple craniofacial deformities (Moss, 1957). Hypertelorism, downward slanting of the lateral canthi, palpebral fissure widening, displacement of the orbital rim and/or ear, and deviation of the nasal bone
1010-5182/$ e see front matter Ó 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jcms.2013.07.018
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
2
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
Fig. 1. Patient with scaphocephaly pre.
Fig. 3. Patient with plagiocephaly.
Fig. 2. Patient with scaphocephaly post.
have all been commonly reported (Grabb et al., 1991). To allow for proper physical and psychological development as the child the clinician must address each of these dysmorphisms, like the deformities in the skull. In addition to these morphologic abnormalities of the calvarial vault and craniofacial skeleton, several functional aspects of premature suture fusion also merit significant consideration. Studies by Renier et al. (1982) have suggested the risk for the increase in intracranial pressure to be associated with multiple suture involvement, and that decreases in pressure measurements may follow surgical remodeling of the skull. Gault et al. (1992), likewise, demonstrated high intracranial pressure to occur most frequently in children with multiple premature suture fusions. Considering the dramatic growth by the brain during the first two years of life, it would be reasonable to expect a mismatch in cranial volume to result in elevated pressures and possible mental retardation. Though this is not often the case, continued concern has eventually driven early surgical intervention. Other functional considerations, in addition to intracranial pressure, have also been well described in association with craniosynostosis. With continued development in radiographic imaging, hydrocephalus, responsible for raised intracranial pressure, has become an entity frequently observed in patients with both syndromic and nonsyndromic craniosynostosis (Kreiborg and Cohen, 1991). Visual disturbances are also commonly reported in those patients with premature pathologic suture fusion. Exorbitism and optic nerve
Fig. 4. Patient with plagiocephaly.
atrophy can be readily attributed to abnormal craniofacial development (Newman, 1991). In addition, stretching of the nerve, compression by carotid vessels, or secondary effects of increased intracranial pressure have also been associated with optic nerve dysfunction (Grabb et al., 1991). Finally, the risk for mental
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
3
retardation has long been argued as a possible complication of craniosynostosis. 3. Syndromic craniosynostosis Syndromic craniosynostosis is less common (20%), although more than 150 syndromes with craniosynostosis have been identified many of which are inherited in a dominant fashion, such as Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. Others, such as Carpenter and Antley-Bixler syndromes, exhibit recessive inheritance (OMIM). Although the genetic basis of many patients with craniosynostosis as part of a syndrome is known, there are still a significant proportion of patients with unknown mutations (Figs. 5 and 6). Apert syndrome is characterized by craniosynostosis affecting the coronal sutures, brachysphenocephalic acrocephaly, midface malformations and not always symmetrical syndactyly of the limbs. Apert syndrome, together with Crouzon syndrome, is the most common syndrome with craniosynostosis. It has a prevalence of 1 in 64,500 live births (Cohen and Kreiborg, 1992) and the incidence is 1:160.000/200.000 live births. It is inherited in an autosomal dominant manner and caused by mutations in fibroblast growth factor receptor 2 (FGFR2) with most mutations arising spontaneously (Wilkie et al., 1995; Park et al., 1995). As in Crouzon, Pfeiffer and Muenke syndromes new mutations causing Apert syndrome are of paternal origin and their risk of occurrence increases with increasing paternal age (Wilkie, 2005). Craniosynostosis of the coronal suture usually occurs before birth. In contrast, cranial base abnormalities occur late in childhood. Patients with Apert syndrome have their head height increased. The brain is large (megalencephaly) and abnormalities in the central nervous system are not uncommon (Cohen and Maclean, 2001). Anomalies of the septum pellucidum are associated with lower IQ (Renier et al., 1996). The coronal sutures are closed at birth; however, all other sutures and fontanels are usually open and often expanded. The metopic and sagittal sutures are widened to form a broad midline defect in which bony islands form and then later coalesce to close
Fig. 5. Images of Opitz syndrome.
Fig. 6. Images of Opitz syndrome.
the area (Cohen and Kreiborg, 1996). Interestingly, fusion of the lambdoidal sutures has also been observed during surgery on Apert syndrome patients. However, in these lambdoidal sutures synostosis was not detected radiographically prior to surgery (Cohen and Kreiborg, 1996; Moore and Bourne, 1996; Kreiborg et al., 1993). Apert syndrome patients exhibit ocular proptosis which may be unbalanced (Cohen and Maclean, 2001; Kreiborg et al., 1999). Oral features are dominated by maxillary abnormalities. Seventy-six per cent of patients have a cleft of the soft palate or uvula. Clefting of the hard palate, alveolus or lip is, however, relatively rare. The palate has a distinctive U shape. The dental development in Apert syndrome patients is delayed on average by 1 year and this delay gets more pronounced the older the individual becomes (Kaloust et al., 1997). There is nearly always dental crowding in both the maxilla and mandible and tooth eruption is often delayed and ectopic. Apert syndrome patients usually exhibit a malocclusion between the upper and lower teeth. These malocclusions are largely the result of midface hypoplasia combined with a relatively normal mandible (Kreiborg et al., 1999). Limb abnormalities are seen in all patients with Apert’s syndrome affected with a very similar extent and degree of changes but the features are never exactly symmetrical. As well as bony fusions, abnormalities of the skin, muscles, tendons, aponeuroses, vessels and nerves of the hands and feet have all been documented in detail (Cohen and Maclean, 2001). In Apert syndrome patients the trachea may be a solid cartilaginous tube. This abnormality as well as other defects in the nasopharyngeal and oropharyngeal spaces can result in airway problems and respiratory distress (Cohen and Maclean, 2001). Crouzon syndrome is characterized by craniosynostosis, usually affecting the coronal suture in combination with craniosynostosis of the sagittal and/or lambdoid sutures, and midface malformations notably ocular proptosis (Cohen and Maclean, 2001) (Figs. 7 and 8). In contrast to Apert syndrome, the limbs of patients with Crouzon syndrome are normal. Together with Apert syndrome, Crouzon syndrome is the most common syndrome with craniosynostosis. The prevalence and the incidence is 1 in 64,500 and 1.6:10.000 live births respectively (Cohen and Kreiborg, 1992). It is inherited in an
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
4
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
Fig. 7. Patient with Crouzon syndrome.
and dependent on the time and order of fusion of the different sutures and synchondroses and the subsequent compensatory growth. The calvarial bones are thin and pronounced digital marking or fingerprint impressions are often seen on radiographs, which increase with age (Kreiborg, 1981). Premature fusion of the spheno-occipital and petro-occipital synchondroses in the cranial base is common in Crouzon syndrome and usually occurs in the late prenatal or in the early postnatal period (Kreiborg et al., 1993). Patients with Crouzon syndrome exhibit symmetric ocular proptosis and this is a result of small orbits. The maxilla is hypoplastic and this together with the retrusion of the lower orbital rim worsens the proptosis. The palate is narrow, high vaulted and in 50% of cases exhibits lateral swellings, but it is rarely cleft. The maxillary hypoplasia contributes to both dental crowding and malocclusion. Interestingly, ectopic eruption of first permanent molar teeth has been observed in 47% of cases (Kreiborg, 1981). The upper first permanent molar normally erupts behind the second deciduous molar and in front of the upper second permanent molar. Conductive hearing problems are found in approximately half of patients with Crouzon syndrome and atresia (closure or absence) of the external auditory meatus is found in 13% (Kreiborg, 1981). Abnormalities of the central nervous system are common. Fusions of the cervical vertebrae occur in 22% of cases (Kreiborg, 1981; Anderson et al., 1997). In common with Apert syndrome tracheal abnormalities may occur in patients with Crouzon syndrome. The abnormality may extend into the bronchi (Devine et al., 1984). Pfeiffer syndrome’s typical features are craniosynostosis, midface malformations including maxillary hypoplasia and ocular proptosis, widening of the thumbs and great toes, syndactyly and brachydactyly (Cohen and Maclean, 2001) (Figs. 9 and 10). Mutations in FGFR1 or FGFR2 are known to cause Pfeiffer syndrome, which can be inherited in an autosomal dominant manner (Rice, 2005). New mutations are of paternal origin and their risk of occurrence increases with increasing paternal age (Wilkie, 2005).
Fig. 8. Patient with Crouzon syndrome.
autosomal dominant manner and caused by mutations in FGFR2 [28, 29] and, more rarely, when associated with acanthosis nigricans, FGFR3. Similar to Apert, Pfeiffer and Muenke syndromes, new mutations causing Crouzon syndrome are of paternal origin and their risk of occurrence increases with increasing paternal age (Wilkie, 2005). Craniosynostosis may be present at birth but usually develops during the first year of life. The shape of the head may be scaphocephalic (narrow, elongated from posterior to anterior), trigonocephalic (triangular shape with pointed forehead) or cloverleaf (trilobed). The shape of the head is largely predictable
Fig. 9. Patient with Pfeiffer syndrome.
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
5
4. Surgery of craniosynostosis in infants Step I: Correction of craniosynostosis between the ages of 3 and 6 months
Fig. 10. Patient with Pfeiffer syndrome.
As Pfeiffer syndrome is so rare, its prevalence is hard to calculate and is at present unknown. Three clinical types based upon the presentation of the abnormalities, and prognoses have been described (Cohen, 1993). All three types have craniosynostosis, broad thumbs and great toes, and brachydactyly. Type 1 is described as the classic or mild type, characterized by craniosynostosis, usually involving the coronal suture and the sagittal suture and generally resulting in brachycephaly (short, broad cranial vault). Patients with type one Pfeiffer syndrome are usually of normal or near standard intelligence and have a long life span. Type 2 Pfeiffer syndrome is more severe and characterized by craniosynostosis in multiple sutures resulting in a cloverleaf skull. Cloverleaf skull (trilobed shape) can be of varying severity and can result from a combination of different suture synostoses. In general cloverleaf-shaped skull involves premature fusion of the coronal, lambdoid and metopic sutures with the brain bulging through the sagittal and squamosal sutures resulting in a trilobed shape (Cohen and Maclean, 2001). Type 2 Pfeiffer syndrome is also characterized by severe ocular proptosis, subnormal intellectual development, radiohumeral synostosis and ankylosis of the elbow joint, and a short life span. Type 3 Pfeiffer syndrome is similar to type 2 except patients do not exhibit a cloverleaf skull but simpler craniosynostosis, and the patients have a very short anterior cranial base. Pfeiffer syndrome features dental crowding, cross-bite and class three malocclusion. The presence of multiple natal teeth has been reported in type 3 Pfeiffer syndrome (Alvarez et al., 1993). The primary dentition normally starts to erupt into the mouth after six months. Pfeiffer syndrome patients may have low-set ears and ear tags. Limb Features Synostosis of the elbow is a feature of type 2 and type 3 Pfeiffer syndrome. Other characteristics of Pfeiffer syndrome are mild soft tissue syndactyly (webbing) and brachydactyly (shortening of the digits). Shortening of the middle phalanges, brachymesophalangy, has been observed in both the hands and feet (Cohen and Maclean, 2001). These include fusions of the cervical vertebrae, fusions of the cartilaginous tracheal rings and various cardiovascular, gastrointestinal and urogenital abnormalities.
Craniofacial surgery has significantly improved the treatment outcomes of craniosynostosis. New techniques of remodeling and reshaping the cranial vault allow for rapid expansion and growth of the brain. Craniofacial remodeling techniques were developed in the early 1970s. Simple craniosynostosis like plagiocephaly, brachycephaly or trigonocephaly and other related deformities can be successfully treated with frontocranial remodeling. Lambdoid synostosis, which rarely requires surgical correction, may be treated with occipital bandeau remodeling. Surgery for craniosynostosis has evolved rapidly over the past two decades, with increased emphasis on early operations and on fewer invasive procedures (Persing et al., 1989). Currently, surgeons at many craniofacial centres favour surgical correction before the age of six months as described by Hormozi et al. in his work (Hormozi et al., 2011). The patients’ mean age has been reduced and this reduction depends on several factors: the necessity to avoid the morbidity caused by extensive cranial vault remodeling in older children; the better knowledge of synostosis; the increased awareness of its possible late consequences by the paediatricians; the refinements in surgical treatment as compared to 20 years ago and concomitant important improvements in paediatric intensive care and anaesthesia. Jimenez and Barone (Newman, 1991) first described endoscopic synostosis repair in 1998. This technique allows for a less invasive method of craniosynostosis repair. When detected early, minimally invasive repair combined with a postoperative moulding device can result in excellent longstanding reconstruction of the cranial skeleton. These methods may decrease some of the morbidity, such as that caused by blood loss, involved with traditional reconstructions. The length of the incisions is shorter; surgery is less prolonged, and durations of ICU and hospital stays are reduced. Although these procedures are unlikely to ever completely replace standard ones using bicoronal incisions, multiple craniotomies and osteotomies, and plate and screw reconstruction (particularly in children with months of age), they should be part of the armamentarium of the modern craniofacial surgeon for the treatment of craniosynostosis in the neonatal period as many authors described (Fairley et al., 2012). It’s useful for the children to spend one night in the paediatric ICU, but the regular paediatric surgical ward is completely acceptable. Step II: Correction of midface retrusion with distraction techniques by the age of 4 to 5 years. Timing and progress of the distraction may vary, depending on the severity of obstructive sleep apnoea, malocclusion, and psychological disturbance. With regard to the distraction method, since McCarthy et al. (1992) applied this procedure to human mandible lengthening in 1992, many reports applying this method to midface retrusion have been published (Alonso et al., 1998; Chin and Toth, 1997; Cohen et al., 1999; Gosain et al., 2002; Holmes et al., 2002; Kubler et al., 2004; Polley and Figueroa, 1997; Uemura et al., 2003). The application of the distraction method to these surgical techniques was followed by applications to the cranial vault. This new application has also been demonstrated and has altered the concept of treatment modalities for craniosynostosis over the last few years (Imai et al., 2002; Uemura et al., 2003). Some of the disadvantages of the distraction method are complications such as infection (Chin and Toth, 1997; Gosain et al., 2002), fluid discharge, exposure of the device, scarring, bone fracture (Cohen et al.,1999), dislocation, and distortion of the device. Similarly,
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
6
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
our clinic experienced dislocation of the device and skin erosion caused by infection around the access wound, and the patient required re-operation and more antibiotics. Distortion of the device was found to occur because of wrong distraction vectors or unexpected cranial expansion forces. As a result, it was found that the most important point to be observed when utilizing the distraction method is to correctly anticipate the direction of cranial expansion and to align devices in their proper vectors. Other disadvantages are that a second operation to remove the device is required and treatment time is lengthened by several months (Gosain et al., 2002). Furthermore, the additional cost of the devices is incurred (Gosain et al., 2002). Based on our experience, it is difficult to use the distraction method for Infantile Calvarial Normalization because of thin calvarial bones, so that the application of this surgical technique would be limited to patients more than 6 months old. Conversely, one of the advantages is a lower complication rate, especially with regards to infection. Some reports reason that this lower rate is caused by limited frontal dead space, gradual expansion of the soft tissue and re-epithelialization of the mucosa. Additionally, lower blood loss and lower operative time is also to the patients’ benefit. Moreover, this procedure, especially when utilizing internal devices, would be acceptable for young patients who cannot cooperate with other treatments. Primarily, the most important advantage is that sufficient cranial expansion and reduction of increased ICP can be achieved. Step III: Correction of hypertelorism and turricephaly at age 4 to 6 years. This may be done in conjunction with, or separately from, step II. Tessier was the first to demonstrate that correction of hypertelorism and translocation of the globe could be successfully performed with orbital osteotomies through the intracranial approach. The highly complex orbital region consists of the bony orbit, the globe, the eyelids, and soft tissue adnexal structures. Therefore the surgical procedures require correct planning, a proper knowledge of the anatomic structures and an appropriate surgery capability. Step IV: Await There is an option to await full maturity and perform Le Fort I or Le Fort III procedure in conjunction with mandibular osteotomy to normalize appearance and correct malocclusion. 5. Conclusion Craniosynostosis is usually diagnosed in the first few months of life. Early surgery is fundamental since cranial expansion at an early age is taking advantage of the pushing growth exerted by the brain on the cranial vault, while minimizing the risk of mental impairment due to restricted brain growth by relieving intracranial hypertension early. This belief stems from the view that the skull grows in response to the growth of the brain, which is regarded as the main driving force of head growth. A significant proportion of patients with craniosynostosis (25e 35%) are likely to have intracranial hypertension. The incidence of intracranial hypertension varies among different types of craniosynostosis and is higher in syndromic forms. As many as 60% of patients with Crouzon syndrome and 45% of patients with Apert syndrome have intracranial hypertension. Many related problems, such as syndactyly, midface retrusion, hypertelorism are typical in syndromic craniosynostosis. These are complex problems needing adequate diagnostic approach, patient management, family support and appropriate treatment.
Non-surgical and surgical treatment is a challenging problem requiring expert skills of different specialties working as a team. Dedicated craniofacial teams experienced in the management of these patients have the advantage of greater experience. From our experience we believe that the aim of the treatment is to avoid the complication of the prematurely fusion of the calvarian bones. Each patient has to be analysed according to the age, the pathology, the clinical manifestation in order to plan the best possible treatment. Simple craniosynostosis like plagiocephaly, brachycephaly or trigonocephaly and other related deformities can be successfully treated with frontocranial remodeling. Lambdoid synostosis, which rarely requires surgical correction, may be treated with occipital bandeau remodeling. The treatment should be performed as soon as possible, before the age of six months. The treatment of the syndromic craniosynostosis has to be divided into two different stages: the first one, until the age of six months to treat the cranial vault and the second one to treat the midface retrusion. This surgical approach enabled us to achieve the best results: the early treatment of craniosynostosis allows for a normal cranial vault growth and prevents brain damages while the treatment of the midface retrusion between 4 and 5 years allows the young patient to obtain social integration without the stigmata of the malformation. In the treatment of syndromic craniosynostosis a new surgical technique has been established. It involves the correction of cranial stenosis and midfacial retrusion with a singlesurgical procedure: the fronto-facial monobloc advancement (Arnauld and Di Rocco, 2012). This type of surgical procedure is able to achieve excellent results avoiding the patient to undergo many surgeries, but remains to this day an intervention especially risky and not free from infectious complications and more. The introduction of distraction in this type of procedure has certainly brought great benefits but, in our experience the one-stage protocol would not be as good with the two-stage protocol. Conflict of interest statement All authors disclose any financial and personal relationships with other people or organizations that could inappropriately influence this work. References Alonso N, Munhoz AM, Fogaça W, Ferreira MC: Midfacial advancement by bone distraction for treatment of craniofacial deformities. J Craniofac Surg 9: 114e 118, 1998 Alvarez MP, Crespi PV, Shanske AL: Natal molars in Pfeiffer syndrome type 3: a case report. J Clin Pediatr Dent 18: 21e24, 1993 Anderson PJ, Hall C, Evans RD, Harkness WJ, Hayward RD, Jones BM: The cervical spine in Crouzon syndrome. Spine 22: 402e405, 1997 Arnauld E, Di Rocco F: Faciocraniosynostosis: monobloc frontofacial osteotomy replacing the two-stage strategy? Childs Nerv Syst 28(9): 1557e1564, 2012 Chin M, Toth BA: Le Fort III advancement with gradual distraction using internal devices. Plast Reconstr Surg 100: 819e830, 1997 Cohen MJ, Maclean R: Craniosynostosis, diagnosis, evaluation, and management, 2nd edn. Oxford: Oxford University Press, 2001 Cohen Jr MM: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45: 300e307, 1993 Cohen Jr MM, Kreiborg S: New indirect method for estimating the birth prevalence of the Apert syndrome. Int J Oral Maxillofac Surg 21: 107e109, 1992 Cohen Jr MM, Kreiborg S: Suture formation, premature sutural fusion, and suture default zones in Apert syndrome. Am J Med Genet 62: 339e344, 1996 Cohen SR, Boydston W, Hudgins R, Burstein FD: Monobloc and facial bipartition distraction with internal devices. J Craniofac Surg 10: 244e251, 1999 Devine P, Bhan I, Feingold M, Leonidas JC, Wolpert SM: Completely cartilaginous trachea in a child with Crouzon syndrome. Am J Dis Child 138: 40e43, 1984 Fairley JD, Sackerer D, Zeilhofer HF, Sturtz G. J Craniofac Surg 23(2): e98e100, 2012 Mar Gault DT, Renier D, Marchac D, Jones BM: Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 90: 377e381, 1992 Gosain AK, Santoro TD, Havlik RJ, Cohen SR, Holmes RE: Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions. Plast Reconstr Surg 109: 1797e1808, 2002
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7 Grabb WC, Smith JW, Aston SJ: Plastic surgery, 4th edn. Boston,: Little, Brown, 1991 Holmes AD, Wright GW, Meara JG, Heggie AA, Probert TC: Le Fort III internal distraction in syndromic craniosynostosis. J Craniofac Surg 13: 262e272, 2002 Hormozi AK, Shahverdiani R, Mohammadi HR, Zali A, Mofrad HR: Surgical treat ment of metopic synostosis. J Craniofac Surg 22(1): 261e265, 2011 Jan Imai K, Komune H, Toda C, Nomachi T, Enoki E, Sakamoto H, et al: Cranial remodeling to treat craniosynostosis by gradual distraction using a new device. J Neurosurg 96: 654e659, 2002 Kaloust S, Ishii K, Vargervik K: Dental development in Apert syndrome. Cleft Palate Craniofac J 34: 117e121, 1997 Kreiborg S: Crouzon syndrome. A clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Suppl 18: 1e198, 1981 Kreiborg S, Aduss H, Cohen Jr MM: Cephalometric study of the Apert syndrome in adolescence and adulthood. J Craniofac Genet Dev Biol 19: 1e11, 1999 Kreiborg S, Cohen Jr MM: The infant Apert skull. Neurosurg Clin N Am 2: 551e554, 1991 Kreiborg S, Marsh JL, Cohen Jr MM, Liversage M, Pedersen H, Skovby F, et al: Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 21: 181e188, 1993 Kubler AC, Speder B, Zoller JE: Fronto-orbital advancement with simultaneous LeFort III-distraction. J Caraniomaxillofac Surg 32: 291e295, 2004 McCarthy JG, Schreiber J, Karp N, Thorne CH, Grayson BH: Lengthening the human mandible by gradual distraction. Plast Reconstr Surg 89: 1e8, 1992 Moore MH, Bourne AJ: Cranial suture disease in the Apert’s syndrome infant. J Craniofac Surg 7: 271e274, 1996 Moss ML: Experimental alteration of sutural area morphology. Anat Rec 127: 569e 589, 1957 Moss ML: The pathogenesis of premature cranial synostosis in man. Acta Anat 37: 351e370, 1959 Newman SA: Ophthalmic features of craniosynostosis. Neurosurg Clin N Am 2: 587e610, 1991 OMIM: Online Mendelian Inheritance in Man. John Hopkins University. Otto AW: Lehrbuch der Pathologischen Anatomie. Berlin: Rucher, 1830
7
Park EA, Powers GF: Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities. Am J Dis Child 20: 235e315, 1920 Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, et al: Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57: 321e328, 1995 Persing JA, Edgerton MT, Jane JA: Scientific foundations and surgical treatment of craniosynostosis. Baltimore: Williams & Wilkins, 1989 Polley JW, Figueroa AA: Management of severely maxillary deficiency in childhood and adolescence through distraction osteogenesis with an external adjustable, rigid distraction device. J Craniofac Surg 8: 181e185, 1997 Posnick JC: Craniofacial syndromes and anomalies. In: Posnick JC (ed.), Craniofacial and maxillofacial surgery in children and young adults, vol. 1. Philadelphia: Saunders, 391e527, 2000 Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D: Prognosis for mental function in Apert’s syndrome. J Neurosurg 85: 66e72, 1996 Renier D, Sainte-Rose C, Marchac D, Hirsch JF: Intracranial pressure in craniostenosis. J Neurosurg 57: 370e377, 1982 Rice DP: Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 5: 699e722, 2005 Tessier P: Total facial osteotomy. Crouzon’s syndrome, Apert’s syndrome: oxycephaly, scaphocephaly, turricephaly. Ann Chir Plast 12: 273e286, 1967 (in French) Uemura T, Hayashi T, Satoh K, Mitsukawa N, Yoshikawa A, Suse T, et al: Threedimensional cranial expansion using distraction osteogenesis for oxycephaly. J Craniofac Surg 14: 29e36, 2003 Virchow R: Über den Cretinismus, namentlich in Franken, und über pathologische. Schädelformen. Verh Phys Med Gesellsch Würzburg 2: 231e271, 1851 Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165e172, 1995 Wilkie AO: Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGFreceptor mutations. Cytokine Growth Factor Rev 16: 187e203, 2005
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
Contents lists available at ScienceDirect
Journal of Cranio-Maxillo-Facial Surgery journal homepage: www.jcmfs.com
Surgical timing of craniosynostosis: What to do and when Mario Pagnoni a, Maria Teresa Fadda a, Alberto Spalice b, Giulia Amodeo a, *, Fabiana Ursitti b, Valeria Mitro a, Giorgio Iannetti a a b
Department of Maxillo-Facial Surgery, Policlinico Umberto I, Sapienza University of Rome, Piazzale Aldo Moro 9, 00185 Rome, Italy Department of Pediatrics, Child Neurology Division, Policlinico Umberto I, Sapienza University of Rome, Piazzale Aldo Moro 9, 00185 Rome, Italy
a r t i c l e i n f o
a b s t r a c t
Article history: Paper received 20 January 2013 Accepted 31 July 2013
Craniosynostosis, both isolated and syndromic, are challenging malformations for the craniofacial team. They present the team with an articulated cascade of choices, which need to be addressed early in life and in the growing age to intercept, remove, or correct the direct and indirect consequences of the malformation. Timing of treatment is thus critical and it stands on the experience of a multi-specialty trained craniofacial team. In this paper the authors discuss the timing of treatment of the major craniosynostosis, isolated and syndromic, reviewing the options for treatment and their experience in this complex field. Ó 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
Keywords: Isolated craniosynostosis Syndromic craniosynostosis Surgical timing
1. Introduction The timing of surgery for craniosynostosis is still controversial. The aim of this study is to find a common and practical protocol to treat this kind of patients over their lives. Craniosynostosis, the premature fusion of one or more cranial sutures, was first described by Otto in 1830 (Otto, 1830). Studies by Virchow in the 1850s led to the proposal of calvarial growth in a plane parallel to that of the fused suture, with sagittal synostosis resulting in a scaphocephalic, or boat-shaped, skull secondary to compensatory growth in the anteroposterior axis (Virchow, 1851). Virchow, however, also attributed craniosynostosis to either cretinism or an inflammation from the meninges (Virchow, 1851). Subsequent work by Park and Powers (1920) led to a conceptual revision in the 1920s, as congenital abnormalities in the suture mesenchyme became thought of as responsible for early suture fusion. In the 1950s, aetiological explanations for craniosynostosis once again changed, with studies by Moss (1959) purporting aberrations in the basicranium altering transmission of force, via the dura mater, to the overlying cranial sutures ultimately affecting premature fusion. While recent genetic and mechanical studies have now supplanted this notion, investigations by Moss, nonetheless, engendered a radical shift in the surgical approach to craniosynostosis. Given the
* Corresponding author. Viale del Policlinico 155, 00186 Rome, Italy. Tel.: þ39 3391020622. E-mail address: [email protected] (G. Amodeo).
observation that suturectomy alone did not restore normal calvarial development, complex craniofacial procedures were also deemed necessary to allow for proper growth and cranial expansion (Moss, 1959). Such realizations resulted in the pioneering work of Paul Tessier (1967). Epidemiologically these kinds of pathologies may be divided into isolated, further divided into single or multiple synostosis, and syndromic. 2. Isolated craniosynostosis Premature fusion of one or more cranial suture results in restriction of the growing brain, with subsequent morphologic bony deformities due to specific patterns of compensatory growth. The most common type of craniosynostosis, whether isolated or part of a larger syndromic pattern, is sagittal synostosis, resulting in a scaphocephalic deformity (Posnick, 2000) (Figs. 1 and 2). Other forms include metopic synostosis, resulting in a trigonocephaly deformity, unilateral coronal synostosis, resulting in a plagiocephaly deformity (Figs. 3 and 4), and bilateral coronal synostosis, resulting in a turribrachycephalic deformity. While lambdoid synostosis may also result in a plagiocephalic skull, this clinical entity has been infrequently encountered (Posnick, 2000). In addition to this calvarial dysmorphologies, premature pathologic suture fusion, as demonstrated by Moss, may be associated with multiple craniofacial deformities (Moss, 1957). Hypertelorism, downward slanting of the lateral canthi, palpebral fissure widening, displacement of the orbital rim and/or ear, and deviation of the nasal bone
1010-5182/$ e see front matter Ó 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jcms.2013.07.018
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
2
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
Fig. 1. Patient with scaphocephaly pre.
Fig. 3. Patient with plagiocephaly.
Fig. 2. Patient with scaphocephaly post.
have all been commonly reported (Grabb et al., 1991). To allow for proper physical and psychological development as the child the clinician must address each of these dysmorphisms, like the deformities in the skull. In addition to these morphologic abnormalities of the calvarial vault and craniofacial skeleton, several functional aspects of premature suture fusion also merit significant consideration. Studies by Renier et al. (1982) have suggested the risk for the increase in intracranial pressure to be associated with multiple suture involvement, and that decreases in pressure measurements may follow surgical remodeling of the skull. Gault et al. (1992), likewise, demonstrated high intracranial pressure to occur most frequently in children with multiple premature suture fusions. Considering the dramatic growth by the brain during the first two years of life, it would be reasonable to expect a mismatch in cranial volume to result in elevated pressures and possible mental retardation. Though this is not often the case, continued concern has eventually driven early surgical intervention. Other functional considerations, in addition to intracranial pressure, have also been well described in association with craniosynostosis. With continued development in radiographic imaging, hydrocephalus, responsible for raised intracranial pressure, has become an entity frequently observed in patients with both syndromic and nonsyndromic craniosynostosis (Kreiborg and Cohen, 1991). Visual disturbances are also commonly reported in those patients with premature pathologic suture fusion. Exorbitism and optic nerve
Fig. 4. Patient with plagiocephaly.
atrophy can be readily attributed to abnormal craniofacial development (Newman, 1991). In addition, stretching of the nerve, compression by carotid vessels, or secondary effects of increased intracranial pressure have also been associated with optic nerve dysfunction (Grabb et al., 1991). Finally, the risk for mental
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
3
retardation has long been argued as a possible complication of craniosynostosis. 3. Syndromic craniosynostosis Syndromic craniosynostosis is less common (20%), although more than 150 syndromes with craniosynostosis have been identified many of which are inherited in a dominant fashion, such as Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. Others, such as Carpenter and Antley-Bixler syndromes, exhibit recessive inheritance (OMIM). Although the genetic basis of many patients with craniosynostosis as part of a syndrome is known, there are still a significant proportion of patients with unknown mutations (Figs. 5 and 6). Apert syndrome is characterized by craniosynostosis affecting the coronal sutures, brachysphenocephalic acrocephaly, midface malformations and not always symmetrical syndactyly of the limbs. Apert syndrome, together with Crouzon syndrome, is the most common syndrome with craniosynostosis. It has a prevalence of 1 in 64,500 live births (Cohen and Kreiborg, 1992) and the incidence is 1:160.000/200.000 live births. It is inherited in an autosomal dominant manner and caused by mutations in fibroblast growth factor receptor 2 (FGFR2) with most mutations arising spontaneously (Wilkie et al., 1995; Park et al., 1995). As in Crouzon, Pfeiffer and Muenke syndromes new mutations causing Apert syndrome are of paternal origin and their risk of occurrence increases with increasing paternal age (Wilkie, 2005). Craniosynostosis of the coronal suture usually occurs before birth. In contrast, cranial base abnormalities occur late in childhood. Patients with Apert syndrome have their head height increased. The brain is large (megalencephaly) and abnormalities in the central nervous system are not uncommon (Cohen and Maclean, 2001). Anomalies of the septum pellucidum are associated with lower IQ (Renier et al., 1996). The coronal sutures are closed at birth; however, all other sutures and fontanels are usually open and often expanded. The metopic and sagittal sutures are widened to form a broad midline defect in which bony islands form and then later coalesce to close
Fig. 5. Images of Opitz syndrome.
Fig. 6. Images of Opitz syndrome.
the area (Cohen and Kreiborg, 1996). Interestingly, fusion of the lambdoidal sutures has also been observed during surgery on Apert syndrome patients. However, in these lambdoidal sutures synostosis was not detected radiographically prior to surgery (Cohen and Kreiborg, 1996; Moore and Bourne, 1996; Kreiborg et al., 1993). Apert syndrome patients exhibit ocular proptosis which may be unbalanced (Cohen and Maclean, 2001; Kreiborg et al., 1999). Oral features are dominated by maxillary abnormalities. Seventy-six per cent of patients have a cleft of the soft palate or uvula. Clefting of the hard palate, alveolus or lip is, however, relatively rare. The palate has a distinctive U shape. The dental development in Apert syndrome patients is delayed on average by 1 year and this delay gets more pronounced the older the individual becomes (Kaloust et al., 1997). There is nearly always dental crowding in both the maxilla and mandible and tooth eruption is often delayed and ectopic. Apert syndrome patients usually exhibit a malocclusion between the upper and lower teeth. These malocclusions are largely the result of midface hypoplasia combined with a relatively normal mandible (Kreiborg et al., 1999). Limb abnormalities are seen in all patients with Apert’s syndrome affected with a very similar extent and degree of changes but the features are never exactly symmetrical. As well as bony fusions, abnormalities of the skin, muscles, tendons, aponeuroses, vessels and nerves of the hands and feet have all been documented in detail (Cohen and Maclean, 2001). In Apert syndrome patients the trachea may be a solid cartilaginous tube. This abnormality as well as other defects in the nasopharyngeal and oropharyngeal spaces can result in airway problems and respiratory distress (Cohen and Maclean, 2001). Crouzon syndrome is characterized by craniosynostosis, usually affecting the coronal suture in combination with craniosynostosis of the sagittal and/or lambdoid sutures, and midface malformations notably ocular proptosis (Cohen and Maclean, 2001) (Figs. 7 and 8). In contrast to Apert syndrome, the limbs of patients with Crouzon syndrome are normal. Together with Apert syndrome, Crouzon syndrome is the most common syndrome with craniosynostosis. The prevalence and the incidence is 1 in 64,500 and 1.6:10.000 live births respectively (Cohen and Kreiborg, 1992). It is inherited in an
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
4
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
Fig. 7. Patient with Crouzon syndrome.
and dependent on the time and order of fusion of the different sutures and synchondroses and the subsequent compensatory growth. The calvarial bones are thin and pronounced digital marking or fingerprint impressions are often seen on radiographs, which increase with age (Kreiborg, 1981). Premature fusion of the spheno-occipital and petro-occipital synchondroses in the cranial base is common in Crouzon syndrome and usually occurs in the late prenatal or in the early postnatal period (Kreiborg et al., 1993). Patients with Crouzon syndrome exhibit symmetric ocular proptosis and this is a result of small orbits. The maxilla is hypoplastic and this together with the retrusion of the lower orbital rim worsens the proptosis. The palate is narrow, high vaulted and in 50% of cases exhibits lateral swellings, but it is rarely cleft. The maxillary hypoplasia contributes to both dental crowding and malocclusion. Interestingly, ectopic eruption of first permanent molar teeth has been observed in 47% of cases (Kreiborg, 1981). The upper first permanent molar normally erupts behind the second deciduous molar and in front of the upper second permanent molar. Conductive hearing problems are found in approximately half of patients with Crouzon syndrome and atresia (closure or absence) of the external auditory meatus is found in 13% (Kreiborg, 1981). Abnormalities of the central nervous system are common. Fusions of the cervical vertebrae occur in 22% of cases (Kreiborg, 1981; Anderson et al., 1997). In common with Apert syndrome tracheal abnormalities may occur in patients with Crouzon syndrome. The abnormality may extend into the bronchi (Devine et al., 1984). Pfeiffer syndrome’s typical features are craniosynostosis, midface malformations including maxillary hypoplasia and ocular proptosis, widening of the thumbs and great toes, syndactyly and brachydactyly (Cohen and Maclean, 2001) (Figs. 9 and 10). Mutations in FGFR1 or FGFR2 are known to cause Pfeiffer syndrome, which can be inherited in an autosomal dominant manner (Rice, 2005). New mutations are of paternal origin and their risk of occurrence increases with increasing paternal age (Wilkie, 2005).
Fig. 8. Patient with Crouzon syndrome.
autosomal dominant manner and caused by mutations in FGFR2 [28, 29] and, more rarely, when associated with acanthosis nigricans, FGFR3. Similar to Apert, Pfeiffer and Muenke syndromes, new mutations causing Crouzon syndrome are of paternal origin and their risk of occurrence increases with increasing paternal age (Wilkie, 2005). Craniosynostosis may be present at birth but usually develops during the first year of life. The shape of the head may be scaphocephalic (narrow, elongated from posterior to anterior), trigonocephalic (triangular shape with pointed forehead) or cloverleaf (trilobed). The shape of the head is largely predictable
Fig. 9. Patient with Pfeiffer syndrome.
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
5
4. Surgery of craniosynostosis in infants Step I: Correction of craniosynostosis between the ages of 3 and 6 months
Fig. 10. Patient with Pfeiffer syndrome.
As Pfeiffer syndrome is so rare, its prevalence is hard to calculate and is at present unknown. Three clinical types based upon the presentation of the abnormalities, and prognoses have been described (Cohen, 1993). All three types have craniosynostosis, broad thumbs and great toes, and brachydactyly. Type 1 is described as the classic or mild type, characterized by craniosynostosis, usually involving the coronal suture and the sagittal suture and generally resulting in brachycephaly (short, broad cranial vault). Patients with type one Pfeiffer syndrome are usually of normal or near standard intelligence and have a long life span. Type 2 Pfeiffer syndrome is more severe and characterized by craniosynostosis in multiple sutures resulting in a cloverleaf skull. Cloverleaf skull (trilobed shape) can be of varying severity and can result from a combination of different suture synostoses. In general cloverleaf-shaped skull involves premature fusion of the coronal, lambdoid and metopic sutures with the brain bulging through the sagittal and squamosal sutures resulting in a trilobed shape (Cohen and Maclean, 2001). Type 2 Pfeiffer syndrome is also characterized by severe ocular proptosis, subnormal intellectual development, radiohumeral synostosis and ankylosis of the elbow joint, and a short life span. Type 3 Pfeiffer syndrome is similar to type 2 except patients do not exhibit a cloverleaf skull but simpler craniosynostosis, and the patients have a very short anterior cranial base. Pfeiffer syndrome features dental crowding, cross-bite and class three malocclusion. The presence of multiple natal teeth has been reported in type 3 Pfeiffer syndrome (Alvarez et al., 1993). The primary dentition normally starts to erupt into the mouth after six months. Pfeiffer syndrome patients may have low-set ears and ear tags. Limb Features Synostosis of the elbow is a feature of type 2 and type 3 Pfeiffer syndrome. Other characteristics of Pfeiffer syndrome are mild soft tissue syndactyly (webbing) and brachydactyly (shortening of the digits). Shortening of the middle phalanges, brachymesophalangy, has been observed in both the hands and feet (Cohen and Maclean, 2001). These include fusions of the cervical vertebrae, fusions of the cartilaginous tracheal rings and various cardiovascular, gastrointestinal and urogenital abnormalities.
Craniofacial surgery has significantly improved the treatment outcomes of craniosynostosis. New techniques of remodeling and reshaping the cranial vault allow for rapid expansion and growth of the brain. Craniofacial remodeling techniques were developed in the early 1970s. Simple craniosynostosis like plagiocephaly, brachycephaly or trigonocephaly and other related deformities can be successfully treated with frontocranial remodeling. Lambdoid synostosis, which rarely requires surgical correction, may be treated with occipital bandeau remodeling. Surgery for craniosynostosis has evolved rapidly over the past two decades, with increased emphasis on early operations and on fewer invasive procedures (Persing et al., 1989). Currently, surgeons at many craniofacial centres favour surgical correction before the age of six months as described by Hormozi et al. in his work (Hormozi et al., 2011). The patients’ mean age has been reduced and this reduction depends on several factors: the necessity to avoid the morbidity caused by extensive cranial vault remodeling in older children; the better knowledge of synostosis; the increased awareness of its possible late consequences by the paediatricians; the refinements in surgical treatment as compared to 20 years ago and concomitant important improvements in paediatric intensive care and anaesthesia. Jimenez and Barone (Newman, 1991) first described endoscopic synostosis repair in 1998. This technique allows for a less invasive method of craniosynostosis repair. When detected early, minimally invasive repair combined with a postoperative moulding device can result in excellent longstanding reconstruction of the cranial skeleton. These methods may decrease some of the morbidity, such as that caused by blood loss, involved with traditional reconstructions. The length of the incisions is shorter; surgery is less prolonged, and durations of ICU and hospital stays are reduced. Although these procedures are unlikely to ever completely replace standard ones using bicoronal incisions, multiple craniotomies and osteotomies, and plate and screw reconstruction (particularly in children with months of age), they should be part of the armamentarium of the modern craniofacial surgeon for the treatment of craniosynostosis in the neonatal period as many authors described (Fairley et al., 2012). It’s useful for the children to spend one night in the paediatric ICU, but the regular paediatric surgical ward is completely acceptable. Step II: Correction of midface retrusion with distraction techniques by the age of 4 to 5 years. Timing and progress of the distraction may vary, depending on the severity of obstructive sleep apnoea, malocclusion, and psychological disturbance. With regard to the distraction method, since McCarthy et al. (1992) applied this procedure to human mandible lengthening in 1992, many reports applying this method to midface retrusion have been published (Alonso et al., 1998; Chin and Toth, 1997; Cohen et al., 1999; Gosain et al., 2002; Holmes et al., 2002; Kubler et al., 2004; Polley and Figueroa, 1997; Uemura et al., 2003). The application of the distraction method to these surgical techniques was followed by applications to the cranial vault. This new application has also been demonstrated and has altered the concept of treatment modalities for craniosynostosis over the last few years (Imai et al., 2002; Uemura et al., 2003). Some of the disadvantages of the distraction method are complications such as infection (Chin and Toth, 1997; Gosain et al., 2002), fluid discharge, exposure of the device, scarring, bone fracture (Cohen et al.,1999), dislocation, and distortion of the device. Similarly,
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
6
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7
our clinic experienced dislocation of the device and skin erosion caused by infection around the access wound, and the patient required re-operation and more antibiotics. Distortion of the device was found to occur because of wrong distraction vectors or unexpected cranial expansion forces. As a result, it was found that the most important point to be observed when utilizing the distraction method is to correctly anticipate the direction of cranial expansion and to align devices in their proper vectors. Other disadvantages are that a second operation to remove the device is required and treatment time is lengthened by several months (Gosain et al., 2002). Furthermore, the additional cost of the devices is incurred (Gosain et al., 2002). Based on our experience, it is difficult to use the distraction method for Infantile Calvarial Normalization because of thin calvarial bones, so that the application of this surgical technique would be limited to patients more than 6 months old. Conversely, one of the advantages is a lower complication rate, especially with regards to infection. Some reports reason that this lower rate is caused by limited frontal dead space, gradual expansion of the soft tissue and re-epithelialization of the mucosa. Additionally, lower blood loss and lower operative time is also to the patients’ benefit. Moreover, this procedure, especially when utilizing internal devices, would be acceptable for young patients who cannot cooperate with other treatments. Primarily, the most important advantage is that sufficient cranial expansion and reduction of increased ICP can be achieved. Step III: Correction of hypertelorism and turricephaly at age 4 to 6 years. This may be done in conjunction with, or separately from, step II. Tessier was the first to demonstrate that correction of hypertelorism and translocation of the globe could be successfully performed with orbital osteotomies through the intracranial approach. The highly complex orbital region consists of the bony orbit, the globe, the eyelids, and soft tissue adnexal structures. Therefore the surgical procedures require correct planning, a proper knowledge of the anatomic structures and an appropriate surgery capability. Step IV: Await There is an option to await full maturity and perform Le Fort I or Le Fort III procedure in conjunction with mandibular osteotomy to normalize appearance and correct malocclusion. 5. Conclusion Craniosynostosis is usually diagnosed in the first few months of life. Early surgery is fundamental since cranial expansion at an early age is taking advantage of the pushing growth exerted by the brain on the cranial vault, while minimizing the risk of mental impairment due to restricted brain growth by relieving intracranial hypertension early. This belief stems from the view that the skull grows in response to the growth of the brain, which is regarded as the main driving force of head growth. A significant proportion of patients with craniosynostosis (25e 35%) are likely to have intracranial hypertension. The incidence of intracranial hypertension varies among different types of craniosynostosis and is higher in syndromic forms. As many as 60% of patients with Crouzon syndrome and 45% of patients with Apert syndrome have intracranial hypertension. Many related problems, such as syndactyly, midface retrusion, hypertelorism are typical in syndromic craniosynostosis. These are complex problems needing adequate diagnostic approach, patient management, family support and appropriate treatment.
Non-surgical and surgical treatment is a challenging problem requiring expert skills of different specialties working as a team. Dedicated craniofacial teams experienced in the management of these patients have the advantage of greater experience. From our experience we believe that the aim of the treatment is to avoid the complication of the prematurely fusion of the calvarian bones. Each patient has to be analysed according to the age, the pathology, the clinical manifestation in order to plan the best possible treatment. Simple craniosynostosis like plagiocephaly, brachycephaly or trigonocephaly and other related deformities can be successfully treated with frontocranial remodeling. Lambdoid synostosis, which rarely requires surgical correction, may be treated with occipital bandeau remodeling. The treatment should be performed as soon as possible, before the age of six months. The treatment of the syndromic craniosynostosis has to be divided into two different stages: the first one, until the age of six months to treat the cranial vault and the second one to treat the midface retrusion. This surgical approach enabled us to achieve the best results: the early treatment of craniosynostosis allows for a normal cranial vault growth and prevents brain damages while the treatment of the midface retrusion between 4 and 5 years allows the young patient to obtain social integration without the stigmata of the malformation. In the treatment of syndromic craniosynostosis a new surgical technique has been established. It involves the correction of cranial stenosis and midfacial retrusion with a singlesurgical procedure: the fronto-facial monobloc advancement (Arnauld and Di Rocco, 2012). This type of surgical procedure is able to achieve excellent results avoiding the patient to undergo many surgeries, but remains to this day an intervention especially risky and not free from infectious complications and more. The introduction of distraction in this type of procedure has certainly brought great benefits but, in our experience the one-stage protocol would not be as good with the two-stage protocol. Conflict of interest statement All authors disclose any financial and personal relationships with other people or organizations that could inappropriately influence this work. References Alonso N, Munhoz AM, Fogaça W, Ferreira MC: Midfacial advancement by bone distraction for treatment of craniofacial deformities. J Craniofac Surg 9: 114e 118, 1998 Alvarez MP, Crespi PV, Shanske AL: Natal molars in Pfeiffer syndrome type 3: a case report. J Clin Pediatr Dent 18: 21e24, 1993 Anderson PJ, Hall C, Evans RD, Harkness WJ, Hayward RD, Jones BM: The cervical spine in Crouzon syndrome. Spine 22: 402e405, 1997 Arnauld E, Di Rocco F: Faciocraniosynostosis: monobloc frontofacial osteotomy replacing the two-stage strategy? Childs Nerv Syst 28(9): 1557e1564, 2012 Chin M, Toth BA: Le Fort III advancement with gradual distraction using internal devices. Plast Reconstr Surg 100: 819e830, 1997 Cohen MJ, Maclean R: Craniosynostosis, diagnosis, evaluation, and management, 2nd edn. Oxford: Oxford University Press, 2001 Cohen Jr MM: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45: 300e307, 1993 Cohen Jr MM, Kreiborg S: New indirect method for estimating the birth prevalence of the Apert syndrome. Int J Oral Maxillofac Surg 21: 107e109, 1992 Cohen Jr MM, Kreiborg S: Suture formation, premature sutural fusion, and suture default zones in Apert syndrome. Am J Med Genet 62: 339e344, 1996 Cohen SR, Boydston W, Hudgins R, Burstein FD: Monobloc and facial bipartition distraction with internal devices. J Craniofac Surg 10: 244e251, 1999 Devine P, Bhan I, Feingold M, Leonidas JC, Wolpert SM: Completely cartilaginous trachea in a child with Crouzon syndrome. Am J Dis Child 138: 40e43, 1984 Fairley JD, Sackerer D, Zeilhofer HF, Sturtz G. J Craniofac Surg 23(2): e98e100, 2012 Mar Gault DT, Renier D, Marchac D, Jones BM: Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 90: 377e381, 1992 Gosain AK, Santoro TD, Havlik RJ, Cohen SR, Holmes RE: Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions. Plast Reconstr Surg 109: 1797e1808, 2002
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018
M. Pagnoni et al. / Journal of Cranio-Maxillo-Facial Surgery xxx (2013) 1e7 Grabb WC, Smith JW, Aston SJ: Plastic surgery, 4th edn. Boston,: Little, Brown, 1991 Holmes AD, Wright GW, Meara JG, Heggie AA, Probert TC: Le Fort III internal distraction in syndromic craniosynostosis. J Craniofac Surg 13: 262e272, 2002 Hormozi AK, Shahverdiani R, Mohammadi HR, Zali A, Mofrad HR: Surgical treat ment of metopic synostosis. J Craniofac Surg 22(1): 261e265, 2011 Jan Imai K, Komune H, Toda C, Nomachi T, Enoki E, Sakamoto H, et al: Cranial remodeling to treat craniosynostosis by gradual distraction using a new device. J Neurosurg 96: 654e659, 2002 Kaloust S, Ishii K, Vargervik K: Dental development in Apert syndrome. Cleft Palate Craniofac J 34: 117e121, 1997 Kreiborg S: Crouzon syndrome. A clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Suppl 18: 1e198, 1981 Kreiborg S, Aduss H, Cohen Jr MM: Cephalometric study of the Apert syndrome in adolescence and adulthood. J Craniofac Genet Dev Biol 19: 1e11, 1999 Kreiborg S, Cohen Jr MM: The infant Apert skull. Neurosurg Clin N Am 2: 551e554, 1991 Kreiborg S, Marsh JL, Cohen Jr MM, Liversage M, Pedersen H, Skovby F, et al: Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 21: 181e188, 1993 Kubler AC, Speder B, Zoller JE: Fronto-orbital advancement with simultaneous LeFort III-distraction. J Caraniomaxillofac Surg 32: 291e295, 2004 McCarthy JG, Schreiber J, Karp N, Thorne CH, Grayson BH: Lengthening the human mandible by gradual distraction. Plast Reconstr Surg 89: 1e8, 1992 Moore MH, Bourne AJ: Cranial suture disease in the Apert’s syndrome infant. J Craniofac Surg 7: 271e274, 1996 Moss ML: Experimental alteration of sutural area morphology. Anat Rec 127: 569e 589, 1957 Moss ML: The pathogenesis of premature cranial synostosis in man. Acta Anat 37: 351e370, 1959 Newman SA: Ophthalmic features of craniosynostosis. Neurosurg Clin N Am 2: 587e610, 1991 OMIM: Online Mendelian Inheritance in Man. John Hopkins University. Otto AW: Lehrbuch der Pathologischen Anatomie. Berlin: Rucher, 1830
7
Park EA, Powers GF: Acrocephaly and scaphocephaly with symmetrically distributed malformations of the extremities. Am J Dis Child 20: 235e315, 1920 Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, et al: Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57: 321e328, 1995 Persing JA, Edgerton MT, Jane JA: Scientific foundations and surgical treatment of craniosynostosis. Baltimore: Williams & Wilkins, 1989 Polley JW, Figueroa AA: Management of severely maxillary deficiency in childhood and adolescence through distraction osteogenesis with an external adjustable, rigid distraction device. J Craniofac Surg 8: 181e185, 1997 Posnick JC: Craniofacial syndromes and anomalies. In: Posnick JC (ed.), Craniofacial and maxillofacial surgery in children and young adults, vol. 1. Philadelphia: Saunders, 391e527, 2000 Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D: Prognosis for mental function in Apert’s syndrome. J Neurosurg 85: 66e72, 1996 Renier D, Sainte-Rose C, Marchac D, Hirsch JF: Intracranial pressure in craniostenosis. J Neurosurg 57: 370e377, 1982 Rice DP: Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 5: 699e722, 2005 Tessier P: Total facial osteotomy. Crouzon’s syndrome, Apert’s syndrome: oxycephaly, scaphocephaly, turricephaly. Ann Chir Plast 12: 273e286, 1967 (in French) Uemura T, Hayashi T, Satoh K, Mitsukawa N, Yoshikawa A, Suse T, et al: Threedimensional cranial expansion using distraction osteogenesis for oxycephaly. J Craniofac Surg 14: 29e36, 2003 Virchow R: Über den Cretinismus, namentlich in Franken, und über pathologische. Schädelformen. Verh Phys Med Gesellsch Würzburg 2: 231e271, 1851 Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165e172, 1995 Wilkie AO: Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGFreceptor mutations. Cytokine Growth Factor Rev 16: 187e203, 2005
Please cite this article in press as: Pagnoni M, et al., Surgical timing of craniosynostosis: What to do and when, Journal of Cranio-Maxillo-Facial Surgery (2013), http://dx.doi.org/10.1016/j.jcms.2013.07.018